Abderhalden-Kaufmann-Lignac syndrome: Difference between revisions

	Abderhalden-Kaufmann-Lignac syndrome;
ICD-9	270.0

Revision as of 20:21, 28 September 2012

Synonyms and keywords: Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis

@@ Line 15: / Line 15: @@
 {{SK}} Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis
-==Presentation==
-Affected children are developmentally delayed with [[dwarfism]], [[osteomalacia|rickets]] and [[osteoporosis]]. Renal tubular disease is usually present causing [[Acquired renal aminoaciduria|aminoaciduria]], [[glycosuria]] and [[hypokalemia]].
-[[Cysteine]] deposition is most evident in the [[conjunctiva]] and [[cornea]].
-[[Image:autorecessive.svg|thumb|right|Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.]]
 ==Related Chapters==

Abderhalden-Kaufmann-Lignac syndrome
ICD-9	270.0